Incidental Mutation 'R8308:Crem'
ID 641220
Institutional Source Beutler Lab
Gene Symbol Crem
Ensembl Gene ENSMUSG00000063889
Gene Name cAMP responsive element modulator
Synonyms ICER
MMRRC Submission 067793-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.416) question?
Stock # R8308 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 3266048-3337748 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3295397 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 57 (T57K)
Ref Sequence ENSEMBL: ENSMUSP00000121118 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025069] [ENSMUST00000082141] [ENSMUST00000122958] [ENSMUST00000123672] [ENSMUST00000126578] [ENSMUST00000129435] [ENSMUST00000130455] [ENSMUST00000130599] [ENSMUST00000131899] [ENSMUST00000134027] [ENSMUST00000136961] [ENSMUST00000137568] [ENSMUST00000142690] [ENSMUST00000144496] [ENSMUST00000146265] [ENSMUST00000148305] [ENSMUST00000149803] [ENSMUST00000150235] [ENSMUST00000151311] [ENSMUST00000152108] [ENSMUST00000152900] [ENSMUST00000154135] [ENSMUST00000154470] [ENSMUST00000154715] [ENSMUST00000156234] [ENSMUST00000165086]
AlphaFold P27699
Predicted Effect possibly damaging
Transcript: ENSMUST00000025069
AA Change: T110K

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025069
Gene: ENSMUSG00000063889
AA Change: T110K

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Pfam:pKID 112 153 3.1e-20 PFAM
BRLZ 285 343 3.8e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000082141
AA Change: T61K

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000080780
Gene: ENSMUSG00000063889
AA Change: T61K

DomainStartEndE-ValueType
Pfam:pKID 63 104 2.6e-20 PFAM
BRLZ 248 306 3.8e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000122958
AA Change: T57K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121118
Gene: ENSMUSG00000063889
AA Change: T57K

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Pfam:pKID 59 100 7.8e-21 PFAM
BRLZ 244 301 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000123672
AA Change: T45K

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000120557
Gene: ENSMUSG00000063889
AA Change: T45K

DomainStartEndE-ValueType
Pfam:pKID 47 88 1.5e-20 PFAM
BRLZ 157 214 2.73e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126578
AA Change: T57K

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000114780
Gene: ENSMUSG00000063889
AA Change: T57K

DomainStartEndE-ValueType
low complexity region 24 35 N/A INTRINSIC
Pfam:pKID 59 100 7.8e-21 PFAM
BRLZ 244 302 3.8e-6 SMART
Predicted Effect
SMART Domains Protein: ENSMUSP00000118649
Gene: ENSMUSG00000063889
AA Change: T95K

DomainStartEndE-ValueType
low complexity region 63 74 N/A INTRINSIC
Pfam:pKID 98 139 3.1e-21 PFAM
BRLZ 271 328 2.73e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000129435
AA Change: T8K

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000117438
Gene: ENSMUSG00000063889
AA Change: T8K

DomainStartEndE-ValueType
Pfam:pKID 10 51 5.6e-21 PFAM
BRLZ 183 240 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130455
AA Change: T100K

PolyPhen 2 Score 0.545 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121541
Gene: ENSMUSG00000063889
AA Change: T100K

DomainStartEndE-ValueType
low complexity region 67 78 N/A INTRINSIC
Pfam:pKID 102 143 2.8e-20 PFAM
BRLZ 275 333 3.8e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000130599
AA Change: T45K

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000115471
Gene: ENSMUSG00000063889
AA Change: T45K

DomainStartEndE-ValueType
Pfam:pKID 47 88 1.6e-20 PFAM
BRLZ 169 226 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000131899
AA Change: T100K

PolyPhen 2 Score 0.620 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119353
Gene: ENSMUSG00000063889
AA Change: T100K

DomainStartEndE-ValueType
low complexity region 67 78 N/A INTRINSIC
Pfam:pKID 102 143 2.2e-20 PFAM
BRLZ 224 282 3.8e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134027
Predicted Effect possibly damaging
Transcript: ENSMUST00000136961
AA Change: T33K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000115363
Gene: ENSMUSG00000063889
AA Change: T33K

DomainStartEndE-ValueType
Pfam:pKID 35 76 6.5e-21 PFAM
BRLZ 208 265 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000137568
AA Change: T51K

PolyPhen 2 Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000115336
Gene: ENSMUSG00000063889
AA Change: T51K

DomainStartEndE-ValueType
Pfam:pKID 53 94 1.5e-20 PFAM
BRLZ 163 221 3.8e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000142690
AA Change: T94K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000122282
Gene: ENSMUSG00000063889
AA Change: T94K

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
Pfam:pKID 96 138 4.8e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000144496
AA Change: T33K

PolyPhen 2 Score 0.798 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120349
Gene: ENSMUSG00000063889
AA Change: T33K

DomainStartEndE-ValueType
Pfam:pKID 35 76 6.9e-21 PFAM
BRLZ 220 277 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000146265
AA Change: T100K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119638
Gene: ENSMUSG00000063889
AA Change: T100K

DomainStartEndE-ValueType
low complexity region 67 78 N/A INTRINSIC
Pfam:pKID 102 143 2.1e-20 PFAM
BRLZ 212 269 2.73e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148305
Predicted Effect probably damaging
Transcript: ENSMUST00000149803
AA Change: T45K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121210
Gene: ENSMUSG00000063889
AA Change: T45K

DomainStartEndE-ValueType
Pfam:pKID 47 89 2.6e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000150235
AA Change: T110K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121233
Gene: ENSMUSG00000063889
AA Change: T110K

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Pfam:pKID 112 153 1.1e-20 PFAM
BRLZ 297 354 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000151311
AA Change: T61K

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118267
Gene: ENSMUSG00000063889
AA Change: T61K

DomainStartEndE-ValueType
Pfam:pKID 63 104 7.5e-21 PFAM
BRLZ 236 293 2.73e-7 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000152108
AA Change: T33K

PolyPhen 2 Score 0.457 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000122241
Gene: ENSMUSG00000063889
AA Change: T33K

DomainStartEndE-ValueType
Pfam:pKID 35 76 4.7e-21 PFAM
BRLZ 157 214 2.73e-7 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000152900
AA Change: T51K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123515
Gene: ENSMUSG00000063889
AA Change: T51K

DomainStartEndE-ValueType
Pfam:pKID 53 94 2.4e-20 PFAM
BRLZ 238 296 3.8e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000154135
AA Change: T61K

PolyPhen 2 Score 0.260 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122051
Gene: ENSMUSG00000063889
AA Change: T61K

DomainStartEndE-ValueType
Pfam:pKID 63 104 1.9e-20 PFAM
BRLZ 185 243 3.8e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000154470
AA Change: T110K

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000118128
Gene: ENSMUSG00000063889
AA Change: T110K

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Pfam:pKID 112 153 2.3e-20 PFAM
BRLZ 222 280 3.8e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000154715
AA Change: T82K

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000122179
Gene: ENSMUSG00000063889
AA Change: T82K

DomainStartEndE-ValueType
low complexity region 49 60 N/A INTRINSIC
Pfam:pKID 84 125 8.7e-21 PFAM
BRLZ 269 327 3.8e-6 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000156234
AA Change: T94K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121388
Gene: ENSMUSG00000063889
AA Change: T94K

DomainStartEndE-ValueType
low complexity region 61 72 N/A INTRINSIC
Pfam:pKID 96 137 9.1e-21 PFAM
BRLZ 281 339 3.8e-6 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000165086
AA Change: T110K

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000127353
Gene: ENSMUSG00000063889
AA Change: T110K

DomainStartEndE-ValueType
low complexity region 77 88 N/A INTRINSIC
Pfam:pKID 112 153 2.4e-20 PFAM
BRLZ 234 292 3.8e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a basic-leucine zipper domain-containing protein that localizes to gene promoters, where it binds to the cyclic AMP response element (CRE). Different protein isoforms encoded by this gene may function as either activators or repressors of transcription. Activity of this gene is important in multiple developmental processes, including spermatogenesis. Mutation of this gene causes male infertility. Alternative splicing and promoter usage result in multiple transcript variants for this gene. [provided by RefSeq, Oct 2012]
PHENOTYPE: Homozygotes for targeted mutations exhibit reduced regenerative capacity after partial hepatectomy and reduced cardiac function. Males are sterile due to a block in spermiogenesis associated with a lack of postmeiotic gene expression. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,659,570 (GRCm39) D341G probably damaging Het
Abca17 T C 17: 24,486,657 (GRCm39) T1457A probably damaging Het
Acot8 A T 2: 164,646,663 (GRCm39) S25R probably benign Het
Ap2a2 T C 7: 141,210,212 (GRCm39) V850A probably benign Het
Baiap2l1 T A 5: 144,214,487 (GRCm39) E402D probably benign Het
Bptf T C 11: 106,943,815 (GRCm39) K2689E probably damaging Het
Cdh22 C A 2: 164,954,098 (GRCm39) D808Y probably damaging Het
Cilp G A 9: 65,186,286 (GRCm39) G794S probably damaging Het
Cipc A G 12: 87,008,809 (GRCm39) T223A probably benign Het
Cyp17a1 T A 19: 46,656,516 (GRCm39) I393F probably benign Het
Dgcr2 C T 16: 17,676,242 (GRCm39) G176D probably benign Het
Dock3 C A 9: 106,790,371 (GRCm39) V1451L probably benign Het
Dsg2 C T 18: 20,708,121 (GRCm39) P74L probably benign Het
Ece1 T C 4: 137,664,075 (GRCm39) V224A probably damaging Het
Flg A T 3: 93,190,586 (GRCm39) S152C unknown Het
Gcsam A T 16: 45,430,902 (GRCm39) N3I probably damaging Het
Gm10188 C T 1: 132,157,310 (GRCm39) V19I unknown Het
Gpr27 T C 6: 99,670,217 (GRCm39) L193P probably damaging Het
Grin2b A T 6: 135,900,074 (GRCm39) V269E probably damaging Het
Hmmr G A 11: 40,612,499 (GRCm39) S206F probably damaging Het
Kif14 A G 1: 136,443,651 (GRCm39) I1275V possibly damaging Het
Krt27 T C 11: 99,239,862 (GRCm39) E234G probably benign Het
Lmo7 T C 14: 102,139,807 (GRCm39) probably null Het
Matk T G 10: 81,094,121 (GRCm39) S18A probably benign Het
Mbd3l1 A G 9: 18,395,886 (GRCm39) T4A probably benign Het
Mettl23 G A 11: 116,739,185 (GRCm39) probably null Het
Ncam1 A T 9: 49,479,817 (GRCm39) W54R probably damaging Het
Olfm5 A G 7: 103,803,606 (GRCm39) Y286H probably damaging Het
Or10d5j T A 9: 39,868,265 (GRCm39) M1L probably benign Het
Or4c11c G A 2: 88,661,633 (GRCm39) M57I possibly damaging Het
Or4q3 T C 14: 50,582,922 (GRCm39) I326V probably benign Het
Or5ac15 C T 16: 58,939,899 (GRCm39) C178Y probably damaging Het
Pmch A G 10: 87,927,614 (GRCm39) Y105C probably damaging Het
Prg3 A G 2: 84,819,676 (GRCm39) T57A probably benign Het
Ptpn13 A G 5: 103,688,838 (GRCm39) E877G probably damaging Het
Ptprt A G 2: 161,769,566 (GRCm39) V433A probably benign Het
Rufy1 A T 11: 50,297,233 (GRCm39) D406E probably benign Het
Scara5 C T 14: 65,927,234 (GRCm39) R44W probably damaging Het
Scg2 T G 1: 79,414,576 (GRCm39) K49T probably benign Het
Slc40a1 A G 1: 45,950,180 (GRCm39) I424T probably benign Het
Slc4a8 T A 15: 100,693,735 (GRCm39) S479T probably damaging Het
Sorl1 T C 9: 41,929,456 (GRCm39) D1139G probably damaging Het
Srcap A G 7: 127,152,353 (GRCm39) I2206V possibly damaging Het
Tpk1 T C 6: 43,642,711 (GRCm39) E9G probably benign Het
Ttn C T 2: 76,642,645 (GRCm39) V13297I possibly damaging Het
Uchl3 T C 14: 101,932,655 (GRCm39) probably null Het
Usp12 T C 5: 146,688,751 (GRCm39) D201G probably damaging Het
Vmn1r193 C T 13: 22,403,146 (GRCm39) R282H probably benign Het
Vmn2r104 T C 17: 20,261,040 (GRCm39) D461G possibly damaging Het
Zfp131 A G 13: 120,244,440 (GRCm39) M80T possibly damaging Het
Zfp457 A G 13: 67,441,663 (GRCm39) L304P probably benign Het
Zswim3 A G 2: 164,663,566 (GRCm39) E682G probably damaging Het
Other mutations in Crem
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01085:Crem APN 18 3,299,236 (GRCm39) missense probably damaging 1.00
IGL01532:Crem APN 18 3,276,732 (GRCm39) missense probably benign 0.02
IGL02500:Crem APN 18 3,273,477 (GRCm39) missense probably damaging 1.00
IGL03280:Crem APN 18 3,273,415 (GRCm39) splice site probably benign
menthe UTSW 18 3,268,070 (GRCm39) missense probably damaging 1.00
R0379:Crem UTSW 18 3,299,226 (GRCm39) missense probably damaging 1.00
R0987:Crem UTSW 18 3,288,060 (GRCm39) missense probably damaging 0.98
R1829:Crem UTSW 18 3,295,037 (GRCm39) splice site probably null
R1932:Crem UTSW 18 3,299,284 (GRCm39) missense probably benign 0.27
R2086:Crem UTSW 18 3,288,098 (GRCm39) intron probably benign
R2093:Crem UTSW 18 3,299,256 (GRCm39) missense probably damaging 1.00
R4152:Crem UTSW 18 3,288,055 (GRCm39) missense probably damaging 0.99
R4568:Crem UTSW 18 3,299,175 (GRCm39) missense probably damaging 0.98
R4758:Crem UTSW 18 3,327,527 (GRCm39) missense probably damaging 1.00
R6032:Crem UTSW 18 3,267,673 (GRCm39) missense probably damaging 1.00
R6032:Crem UTSW 18 3,267,673 (GRCm39) missense probably damaging 1.00
R6445:Crem UTSW 18 3,309,671 (GRCm39) missense probably benign
R6525:Crem UTSW 18 3,268,070 (GRCm39) missense probably damaging 1.00
R6651:Crem UTSW 18 3,325,428 (GRCm39) missense probably benign 0.18
R7035:Crem UTSW 18 3,327,503 (GRCm39) missense probably damaging 1.00
R7137:Crem UTSW 18 3,273,459 (GRCm39) missense possibly damaging 0.89
R7401:Crem UTSW 18 3,295,329 (GRCm39) missense probably damaging 1.00
R7463:Crem UTSW 18 3,295,094 (GRCm39) missense probably benign 0.06
R7516:Crem UTSW 18 3,299,141 (GRCm39) splice site probably null
R8095:Crem UTSW 18 3,295,106 (GRCm39) missense probably benign 0.00
R8146:Crem UTSW 18 3,288,007 (GRCm39) missense possibly damaging 0.68
R8266:Crem UTSW 18 3,309,535 (GRCm39) intron probably benign
R8825:Crem UTSW 18 3,268,061 (GRCm39) missense probably damaging 0.99
R8899:Crem UTSW 18 3,295,370 (GRCm39) missense probably damaging 0.99
R8976:Crem UTSW 18 3,268,088 (GRCm39) missense possibly damaging 0.88
R9681:Crem UTSW 18 3,268,067 (GRCm39) missense probably damaging 1.00
Z1176:Crem UTSW 18 3,267,730 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGAATACCAGGCACATCAG -3'
(R):5'- CCTGTGAAGTCCTACTTGGTATTC -3'

Sequencing Primer
(F):5'- GCACATCAGAGGAAAGTTCATTC -3'
(R):5'- CTCTCCACATAAGCACTG -3'
Posted On 2020-07-28